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Exosomal Double-stranded DNA As a Biomarker for the Diagnosis and Preoperative Assessment of Pheochromocytoma and Paraganglioma

Overview
Journal Mol Cancer
Publisher Biomed Central
Specialties Molecular Biology
Oncology
Date 2018 Aug 25
PMID 30139385
Citations 41
Authors
Liang Wang
Ying Li
Xin Guan
Jingyuan Zhao
Liming Shen
Jing Liu
Affiliations
Soon will be listed here.
Abstract

Pheochromocytomas (PCCs) and paragangliomas (PGLs) are the most heritable endocrine tumors. Genetic testing for 12 driver susceptibility genes is recommended in all PCC and PGL cases. However, detection of somatic mutations in PCC and PGL remains unrealizable for genetic diagnosis and preoperative assessment. We compared the serum exosomal DNA and tumor tissue DNA from patients or mice with PCC or PGL and found double-stranded DNA (dsDNA) fragments in the circulating exosomes of patients with PCC or PGL. Exosomal dsDNA shared the same mutations in the susceptibility genes with that of the parent tumor cells. Moreover, our research showed that serum-derived exosomal dsDNA in PCC and PGL was highly consistent with the paired tumor genome. Our findings provide the first definitive evidence of the presence of exosomal dsDNA that can be used as a noninvasive genetic marker in one of the most effective somatic mutation screens for the diagnosis and preoperative assessment of PCCs and PGLs.

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